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isolated Pierre-Robin syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

isolated Pierre-Robin syndrome

MONDO:0009869

Also known as:Pierre Robin Sequenceisolated Pierre Robin sequencePierre Robin syndrome skeletal dysplasia polydactyly

Find Clinical TrialsTrials

Overview

Pierre-Robin syndrome (or Pierre-Robin sequence) is characterized by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft.

GeneticsAutosomal recessive

Clinical Trials1 registered

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Cleft palate, Upper airway obstruction, Glossoptosis, and Feeding difficulties in infancy and 4 more.

Organ System	Phenotype Count	Example Features
Lungs and breathing	2	Upper airway obstruction, Neonatal respiratory distress

Diagnosis

Biomarker and diagnostic research for isolated Pierre-Robin syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: 1-9 in 100,000 (Uncommon).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

113 publications have been identified in PubMed for isolated Pierre-Robin syndrome. Research spans Review / Meta-Analysis (27%), Case Report / Case Series (25%), and Clinical Trial Publication (15%).

Research Type	Count	% of Total
Research summaries	25	27%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 11:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:261800

Orphanet

European rare disease database

Orphanet:718

GARD

Genetic and Rare Diseases Info Center

GARD:4347

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

isolated Pierre-Robin syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

isolated Pierre-Robin syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications